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Article

Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies.

Scientific reports - 26 Feb 2016

Fish Maryam, Shaboodien Gasnat, Kraus Sarah, Sliwa Karen, Seidman Christine E, Burke Michael A, Crotti Lia, Schwartz Peter J, Mayosi Bongani M

Abstract excerpt

Cardiomyopathy is an important cause of heart failure in Sub-Saharan Africa, accounting for up to 30% of adult heart failure hospitalisations. This high prevalence poses a challenge in societies without access to resources and interventions essential for disease management. Over 80 genes have been implicated as a cause of cardiomyopathy. Mutations in the phospholamban (PLN) gene are associated with dilated...

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Share to Arrhythmogenic Right Ventricular Dysplasia
Share to Calcium-Binding Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiomyopathy, Dilated

Share to Cardiomyopathy, Hypertrophic

Share to Family Health

Share to Pregnancy Complications, Cardiovascular

Share to Sequence Homology, Amino Acid

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Source

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Identifiers

PMID: 26917049
DOI: 10.1038/srep22235
PMCID: PMC4808831

Genes

PLN

Variants

Provenance

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Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies.PMID 26917049Read ↗

Genetic landscape of phospholamban cardiomyopathiesSemantic proximity Read ↗

Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy.Semantic proximity Read ↗

A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.Semantic proximity Read ↗

Clinical features, survival experience, and profile of plakophylin-2 gene mutations in participants of the arrhythmogenic right ventricular cardiomyopathy registry of South Africa.Semantic proximity Read ↗

Prevalence and cardiac phenotype of patients with a phospholamban mutationSemantic proximity Read ↗

Age-Related Penetrance of Phospholamban p.Arg14del CardiomyopathySemantic proximity Read ↗

Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.Semantic proximity Read ↗

Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy.Semantic proximity Read ↗

PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.Semantic proximity Read ↗

Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in a Northern Greek population.Semantic proximity Read ↗

Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland.Semantic proximity Read ↗

Myocardial fibrosis as an early feature in phospholamban p.Arg14del mutation carriers: phenotypic insights from cardiovascular magnetic resonance imaging.Semantic proximity Read ↗

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